HECW2-related disorder in four Japanese patients

Tomoe Yanagishita, Takuya Hirade, Keiko Shimojima Yamamoto, Makoto Funatsuka, Yusaku Miyamoto, Makiko Maeda, Kumiko Yanagi, Tadashi Kaname, Satoru Nagata, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Kenjiro Kosaki, Toshiyuki Yamamoto

研究成果: Article査読

1 被引用数 (Scopus)

抄録

The HECT, C2, and WW domain containing E3 ubiquitin protein ligase 2 gene (HECW2) is involved in protein ubiquitination. Several genes associated with protein ubiquitination have been linked to neurodevelopmental disorders. HECW2-related disorder has been established through the identification of de novo variants in HECW2 in patients with neurodevelopmental disorders with hypotonia, seizures, and absent language. Recently, we identified novel HECW2 variants in four Japanese patients with neurodevelopmental disorders. Regarding motor development, two of the patients cannot walk, whereas the other two can walk with an unsteady gait, owing to hypotonia. All HECW2 variants, including those that were previously reported, are missense, and no loss-of-function variants have been identified. Most of the identified variants are located around the HECT domain. These findings suggest that the dominant negative effects of missense variants around the HECT domain may be the mechanism underlying HECW2-related disorder.

本文言語English
ページ(範囲)2895-2902
ページ数8
ジャーナルAmerican Journal of Medical Genetics, Part A
185
10
DOI
出版ステータスPublished - 2021 10

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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